Who gets Chronic Granulomatous Disease (CGD)?

CGD is a genetic disease, which means that it is passed down through family. In most cases, children are born with the disease because they inherit a flaw in a gene from one or both parents. This can happen in one of two ways1:

  • X-linked CGD: This is the most common form of CGD. It comes from a defect in a gene on the X chromosome, one of the two chromosomes that make a person male or female
  • Autosomal recessive CGD: This form of CGD is caused by a defect in a gene on a different chromosome than the one that makes a person male or female

Understanding the genetics of CGD

Every cell in our bodies has 46 chromosomes. The ones that make a person male or female are the X chromosome and the Y chromosome. A child gets one of these chromosomes from each parent. To learn more, click through the picture below to see how CGD is passed down from a parent to a child.

The most common way CGD is passed on is when one of a mother’s two X chromosomes has the defective gene. This makes her a carrier because she has one chromosome with the normal gene (known as the dominant gene) and one chromosome with the gene that has a mutation (known as the recessive gene). Since the mother has one normal gene, she usually does not show any signs of the disease and may not even know she has it.1

With each pregnancy, in a mother who carries CGD, there’s a 50% chance that she will pass on the defective chromosome to her child.

Every mother passes along one of her two X chromosomes to each of her children. So with each pregnancy, there is a 50% chance that she will pass the chromosome with the defect to her child. If a child inherits the X chromosome with the defect, these are the possible results1:

  • A boy has one X and one Y chromosome, so if his X chromosome has the defective gene, he will show symptoms of CGD. If his X chromosome does not have the defective gene, the boy will not show symptoms of CGD. So, if his mother is a carrier, a boy has a 50% chance of having the disease. This makes boys more likely than girls to inherit the disease
  • A girl has two X chromosomes, so having only one X chromosome with the defect will make her a carrier and she will probably not show any signs of the disease. But if both of her X chromosomes have the defect (which means that her father has X-linked CGD), then she will show symptoms of CGD. It is much more likely for a female to be a carrier than to have CGD. This means that she can pass on the disease

This way of passing on CGD involves a mutation in a gene on one of the 22 pairs of non–sex-determining chromosomes (autosomes). For this form of CGD, boys and girls are affected in equal numbers.1

Parents who have one mutated gene and one normal gene could pass either one to a child. The gene with the mutation causing CGD is recessive. For a child to have the disease, both copies of the gene—one copy from each parent—would have to be defective. Having only one copy of the defective gene would make the child a carrier.

If both parents carry one recessive gene, each pregnancy is likely to produce a child with1:

  • 25% chance of having CGD
  • 50% chance of being a carrier
  • 25% chance of being unaffected by CGD and not a carrier
  • Equal chance of being affected whether male or female

If only one parent has the defective gene, there is no chance that any of their children will have the disease in autosomal recessive inheritance of CGD.

Reference: 1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Bird TD, Dolan CR, et al, eds. GeneReviews. Seattle, WA: University of Washington; 2012.
signs and symptoms

IMPORTANT SAFETY INFORMATION AND INDICATIONS

Important Information About ACTIMMUNE

What is ACTIMMUNE® (Interferon gamma 1-b) used for?

ACTIMMUNE® (Interferon gamma 1-b) is part of a drug regimen used to treat Chronic Granulomatous Disease, or CGD. CGD is a genetic disorder, usually diagnosed in childhood, that affects some cells of the immune system and the body’s ability to fight infections effectively. CGD is often treated (though not cured) with antibiotics, antifungals, and ACTIMMUNE.

ACTIMMUNE is also used to slow the worsening of severe, malignant osteopetrosis (SMO). SMO is a genetic disorder that affects normal bone formation and is usually diagnosed in the first few months after birth.

When should I not take ACTIMMUNE?

Don’t use ACTIMMUNE if you are allergic to interferon-gamma, E coli-derived products, or any ingredients contained in the product.

What warnings should I know about ACTIMMUNE?

At high doses, ACTIMMUNE can cause (flu-like) symptoms, which may worsen some pre-existing heart conditions.

ACTIMMUNE may cause decreased mental status, walking disturbances, and dizziness, particularly at very high doses. These symptoms are usually reversible within a few days upon dose reduction or discontinuation of therapy.

Bone marrow function may be suppressed with ACTIMMUNE, and decreased production of cells important to the body may occur. This effect, which can be severe, is usually reversible when the drug is discontinued or the dose is reduced.

Taking ACTIMMUNE may cause reversible changes to your liver function, particularly in patients less than 1 year old. Your doctor should monitor your liver function every 3 months, and monthly in children under 1 year.

In rare cases, ACTIMMUNE can cause severe allergic reactions and/or rash. If you experience a serious reaction to ACTIMMUNE, discontinue it immediately and contact your doctor or seek medical help.

What should I tell my healthcare provider?

Be sure to tell your doctor about all the medications you are taking.

Tell your doctor if you:

  • are pregnant or plan to become pregnant or plan to nurse
  • have a cardiac condition such as irregular heartbeat, heart failure, or decreased blood flow to your heart
  • have a history of seizures or other neurologic disorders
  • have, or have had, reduced bone marrow function. Your doctor will monitor these cells with blood tests at the beginning of therapy and at 3-month intervals on ACTIMMUNE therapy
What are the side effects of ACTIMMUNE?

The most common side effects with ACTIMMUNE are “flu-like” symptoms such as fever, headache, chills, muscle pain, or fatigue, which may decrease in severity as treatment continues. Bedtime administration of ACTIMMUNE may help reduce some of these symptoms. Acetaminophen may be helpful in preventing fever and headache.

What other medications might interact with ACTIMMUNE?

Some drugs may interact with ACTIMMUNE to potentially increase the risk of damage to your heart or nervous system, such as certain chemotherapy drugs. Tell your doctor about all other medications you are taking.

Avoid taking ACTIMMUNE at the same time as a vaccination.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088. You may also contact the Horizon Pharma Medical Information Department toll-free at 1-866-479-6742 or medicalinformation
@horizonpharma.com
.

The risk information provided here is not comprehensive. To learn more, talk about ACTIMMUNE with your healthcare provider or pharmacist. The FDA-approved product labeling can be found at http://www.ACTIMMUNE.com or 1-866-479-6742.